Smith-Lemli-Opitz Syndrome

Genes:

DHCR7

Lab method:

Sanger sequencing

Price / TAT:

525 EUR / 2-4 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.